Variant position: 462 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 826 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KCLAMI-NR--FQFVSGADEKVL RVFSAPRNFVENFCAITGQSL
Mouse KCLAMI-DR--FQFVSGADEKVL RVFSAPRNFVENFSVISR
Rat KCLAMI-DR--FQFVSGADEKVL RVFSAPRNFVENFSVISR
Xenopus tropicalis QCLAMI-GR--FQFVSGADEKVL RVFAAPRNFIENFSNISC
Zebrafish QCLTMV-GR--FQFVSGADEKVL RVFKAPRNFVENFAHISG
Drosophila QALALL-SR--YKFASGAEEKIV RTFQAPANFIENFRHISG
Slime mold ECFTFI-NKKTHVIVSGAEEKIM RAFVGSQNFVDTLLNISK
Baker's yeast ICVETV-TD--TRFVSGGDEKIL RSFDLPKGVAGMLQKFVG
Fission yeast TSISCMPSR--IGFLSCADEKVS RVFKFPKTIVRLLYRLCD
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 826 Elongator complex protein 2
436 – 474 WD 9
ELP2 is a novel gene implicated in neurodevelopmental disabilities.
Cohen J.S.; Srivastava S.; Farwell K.D.; Lu H.M.; Zeng W.; Lu H.; Chao E.C.; Fatemi A.;
Am. J. Med. Genet. A 167:1391-1395(2015)
Cited for: VARIANTS MRT58 ARG-206 AND TRP-462; INVOLVEMENT IN MRT58;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.